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Analysis of exon 1 mutations in the androgen receptor gene.
Hum Mutat. 1999; 14(6):527-39.HM

Abstract

Eleven mutations in exon 1 of the androgen receptor gene (AR) have been identified in 15 individuals with Androgen Insensitivity syndrome (AIS). Nine of the mutations yield a stop codon directly, or due to a frameshift, in individuals with complete AIS (CAIS). One individual with CAIS had three different mutations in exon 1: one is nominally silent (Glu 211; GAG 995 GAA); two are missense (Pro 390 Arg and Glu 443 Arg). Five unrelated individuals with either CAIS, partial AIS (PAIS) or mild AIS (MAIS) had GAG 995 GAA as their only alteration. This report almost doubles the number of exon 1 mutations stored in the AR Mutation Database, reinforces their highly predominant nonsense character, and identifies Pro 390 and/or Gln 443 as residues that are probably necessary for one or more specific functions of the AR's N-terminal transactivation domain.

Authors+Show Affiliations

Lady Davis Institute for Medical Research, Sir Mortimer B. Davis-Jewish General Hospital, McGill University, Montreal, Quebec, Canada. mc33@musica.mcgill.caNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10571951

Citation

Gottlieb, B, et al. "Analysis of Exon 1 Mutations in the Androgen Receptor Gene." Human Mutation, vol. 14, no. 6, 1999, pp. 527-39.
Gottlieb B, Vasiliou DM, Lumbroso R, et al. Analysis of exon 1 mutations in the androgen receptor gene. Hum Mutat. 1999;14(6):527-39.
Gottlieb, B., Vasiliou, D. M., Lumbroso, R., Beitel, L. K., Pinsky, L., & Trifiro, M. A. (1999). Analysis of exon 1 mutations in the androgen receptor gene. Human Mutation, 14(6), 527-39.
Gottlieb B, et al. Analysis of Exon 1 Mutations in the Androgen Receptor Gene. Hum Mutat. 1999;14(6):527-39. PubMed PMID: 10571951.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Analysis of exon 1 mutations in the androgen receptor gene. AU - Gottlieb,B, AU - Vasiliou,D M, AU - Lumbroso,R, AU - Beitel,L K, AU - Pinsky,L, AU - Trifiro,M A, PY - 1999/11/26/pubmed PY - 1999/11/26/medline PY - 1999/11/26/entrez SP - 527 EP - 39 JF - Human mutation JO - Hum Mutat VL - 14 IS - 6 N2 - Eleven mutations in exon 1 of the androgen receptor gene (AR) have been identified in 15 individuals with Androgen Insensitivity syndrome (AIS). Nine of the mutations yield a stop codon directly, or due to a frameshift, in individuals with complete AIS (CAIS). One individual with CAIS had three different mutations in exon 1: one is nominally silent (Glu 211; GAG 995 GAA); two are missense (Pro 390 Arg and Glu 443 Arg). Five unrelated individuals with either CAIS, partial AIS (PAIS) or mild AIS (MAIS) had GAG 995 GAA as their only alteration. This report almost doubles the number of exon 1 mutations stored in the AR Mutation Database, reinforces their highly predominant nonsense character, and identifies Pro 390 and/or Gln 443 as residues that are probably necessary for one or more specific functions of the AR's N-terminal transactivation domain. SN - 1059-7794 UR - https://www.unboundmedicine.com/medline/citation/10571951/Analysis_of_exon_1_mutations_in_the_androgen_receptor_gene_ L2 - https://doi.org/10.1002/(SICI)1098-1004(199912)14:6<527::AID-HUMU12>3.0.CO;2-X DB - PRIME DP - Unbound Medicine ER -